Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Or5b106'

260206

Institutional Source

Beutler Lab

Gene Symbol

Or5b106

Ensembl Gene

ENSMUSG00000057503

Gene Name

olfactory receptor family 5 subfamily B member 106

Synonyms

MOR202-17, GA_x6K02T2RE5P-3473421-3472498, Olfr1459

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13123098-13124021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13123771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 84 (L84P)

Ref Sequence

ENSEMBL: ENSMUSP00000150886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078299] [ENSMUST00000213493]

AlphaFold

Q8VFV9

Predicted Effect

probably benign
Transcript: ENSMUST00000078299
AA Change: L84P

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077414
Gene: ENSMUSG00000057503
AA Change: L84P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	8e-50	PFAM
Pfam:7tm_1	39	288	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213493
AA Change: L84P

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215405

Meta Mutation Damage Score

0.6369

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Or5b106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Or5b106	APN	19	13,123,192 (GRCm39)	missense	possibly damaging	0.82
IGL01618:Or5b106	APN	19	13,123,614 (GRCm39)	missense	probably benign	0.00
IGL01800:Or5b106	APN	19	13,123,993 (GRCm39)	missense	probably damaging	1.00
IGL02224:Or5b106	APN	19	13,123,120 (GRCm39)	missense	probably damaging	1.00
BB009:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
BB019:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
PIT4651001:Or5b106	UTSW	19	13,123,991 (GRCm39)	missense	probably benign	0.02
R0617:Or5b106	UTSW	19	13,123,727 (GRCm39)	missense	probably benign	0.28
R2041:Or5b106	UTSW	19	13,124,041 (GRCm39)	start gained	probably benign
R3742:Or5b106	UTSW	19	13,123,258 (GRCm39)	missense	probably damaging	0.98
R4905:Or5b106	UTSW	19	13,123,541 (GRCm39)	missense	probably benign	0.07
R4914:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4915:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4916:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4917:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4918:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R5367:Or5b106	UTSW	19	13,123,865 (GRCm39)	missense	probably damaging	0.98
R6242:Or5b106	UTSW	19	13,123,450 (GRCm39)	missense	probably benign	0.05
R6632:Or5b106	UTSW	19	13,123,552 (GRCm39)	missense	probably benign	0.02
R6893:Or5b106	UTSW	19	13,123,106 (GRCm39)	missense	probably benign	0.00
R7932:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
R9572:Or5b106	UTSW	19	13,123,928 (GRCm39)	missense	possibly damaging	0.78
R9730:Or5b106	UTSW	19	13,123,747 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CAGAAGGAGAGACTTAATGCATCC -3'
(R):5'- GACTCACAACTGCAGCTTCC -3'

Sequencing Primer
(F):5'- CCATAGTATAGATGGAAGCATTCAGC -3'
(R):5'- ACAACTGCAGCTTCCCCTCTTC -3'

Posted On

2015-01-23